Annotation Detail

Information
Associated Genes
EGFR
Associated Variants
EGFR E746_T751>I
EGFR E746_T751>I
Associated Disease
lung non-small cell carcinoma
Source Database
CIViC Evidence
Description
In a study, 2 participants with stage IV adenocarcinoma were sequenced at EGFR exons 18 to 21. Both patients were found to have L747P mutation and were treated with the 1st generation TKIs gefitinib or erlotinib. The first patient (M, 62, nonsmoker) was treated with gefitinib and had progressive disease, progression free survival (PFS) of 1.0 months, overall survival (OS) of 7.7 months and was not alive at study end. The second patient (M, 39, nonsmoker) was treated with erlotinib and had progressive disease as response, PFS of 2.3 months, OS of 7.2 months and was alive at study end. As a whole, patients with uncommon EGFR mutations had a response rate of 47.5%, which was between common (del19 and L858R) at 74.1%, and wild type EGFR at 16.5%. Median PFS and OS (months) for the three groups: 5.0 and 15.0 uncommon, 8.5 and 19.6 common, 2.0 and 10.4 wild type.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/4220
Gene URL
https://civic.genome.wustl.edu/links/genes/19
Variant URL
https://civic.genome.wustl.edu/links/variants/1891
Rating
2
Evidence Type
Predictive
Disease
Lung Non-small Cell Carcinoma
Evidence Direction
Does Not Support
Drug
Erlotinib
Evidence Level
C
Clinical Significance
Sensitivity/Response
Pubmed
21531810
Drugs
Drug NameSensitivitySupported
ErlotinibSensitivityfalse